Benign Notochordal Cell Tumor Research Articles

Clival Chordoma, Arising in Pre-existing Benign Notochordal Cell Tumor, Case Report

Lesions of notochordal origin are unusual surgical cases that have a broad spectrum of differentiation, from remnants to benign tumors -namely “benign notochordal cell tumor BNCT”- to malignant chordoma. These lesions arise within the vertebral bodies at the ends of axial skeleton, clivus and lumbar areas. Chordoma, is a malignant destructive lesion extending from bone to surrounding soft tissue. It is hypothesized to arise from its rare benign counterpart, BNCT as evidenced by their co-existence in rare case reports, in lumbar area, an even more rare in clival region. These benign forms are even scarce to see in surgical pathology specimen and carry a histological resemblance in morphology to malignant chordoma if not recognized. Here, we report a case of chordoma arising from a benign notochordal cell tumor (BNCT), which was discovered in a 35 years old male who presented with diplopia, diagnosed as 6^th nerve palsy. MRI imaging showed an expansile clival lesion with sclerotic borders invading the cavernous sinus and encasing the carotid. Histopathology showed features of chordoma within BNCT. This case highlights the rarity of the entity especially in the clival region, the wide differential diagnosis of clear cell tumor arising in the clival region and the importance of radio-pathological correlation.

Les tumeurs notochordales : de la notochorde au chordome

The group of notochordal tumors consists of the benign notochordal cell tumor and the conventional, dedifferentiated and poorly differentiated chordomas in the fifth edition of the WHO classification of bone and soft tissue tumors. This update covers recent advances in the knowledge of the histogenesis and biology of these tumors and their implications in terms of diagnosis, prognosis assessment and therapeutic management.

Pulmonary tumor with Notochordal differentiation: a case report and morphologic, Immunohistochemical and molecular study of benign Notochordal cell tumor originating in the lung

BackgroundExtraosseous benign notochordal cell tumor is extremely rare, and there are only five reported cases worldwide. The presented case of pulmonary primary benign notochordal cell tumor is the sixth case, but the first to report the deletion mutation of EGFR gene exon 19.Case presentationThe patient was a 50-year-old asymptomatic woman, who had been followed up for 3 years for a nodule in the right lung. After ten months of the wedge resection, the patient is alive without evidence of recurrence or metastasis. The tumor was 7 mm in diameter and was well demarcated. The tumor was consisted of a sheet of large round vacuolated cells with small and bland nuclei. No connective tissue containing blood vessels or inflammatory cell infiltration was detected in the stroma. The tumor was positive for CK AE1/AE3, Vimentin, S100 and Brachyury. EGFR gene mutation and amplification were not detected.ConclusionsWe firstly reported the positive immunohistochemical staining for EGFR and the negative molecular results of EGFR gene of pulmonary primary benign notochordal cell tumor. Due to the rarity of this tumor, more reports are needed to explore pathological characteristics, especially the molecular characteristics, in order to better understand the nature of tumors.

Do All Notochordal Lesions Require Proton Beam Radiotherapy? A Proposed Reclassification of Ecchordosis Physaliphora as Benign Notochord Cell Tumor.

Objectives Ecchordosis physaliphora (EP) is a benign notochord lesion of the clivus arising from the same cell line as chordoma, its malignant counterpart. Although usually asymptomatic, it can cause spontaneous cerebrospinal fluid (CSF) rhinorrhea. Benign notochordal cell tumor (BNCT) is considered another indolent, benign variant of chordoma. Although aggressive forms of chordoma require maximal safe resection followed by proton beam radiotherapy, BNCT and EP can be managed with close imaging surveillance without resection or radiotherapy. However, while BNCT and EP can be distinguished from more aggressive forms of chordoma, differentiating the two is challenging as they are radiologically and histopathologically identical. This case series aims to characterize the clinicopathological features of EP and to propose classifying EP and BNCT together for the purposes of clinical management. Design Case series. Setting Tertiary referral center, United Kingdom. Participants Patients with suspected EP from 2015 to 2019. Main Outcome Measures Diagnosis of EP. Results Seven patients with radiological suspicion of EP were identified. Five presented with CSF rhinorrhea and two were asymptomatic. Magnetic resonance imaging features consistently showed T1-hypointense, T2-hyperintense nonenhancing lesions. Diagnosis was made on biopsy for patients requiring repair and radiologically where no surgery was indicated. The histological features of EP included physaliphorous cells of notochordal origin (positive epithelial membrane antigen, S100, CD10, and/or MNF116) without mitotic activity. Conclusion EP is indistinguishable from BNCT. Both demonstrate markers of notochord cell lines without malignant features. Their management is also identical. We therefore propose grouping EP with BNCT. Close imaging surveillance is required for both as progression to chordoma remains an unquantified risk.

Clinicopathological features of notochordal tumors: a study of 48 cases

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of notochordal tumors. Methods: The clinical, radiologic and pathologic data of 48 notochordal tumors were collected from 2008 to 2019 at Shanghai Jiaotong University Sixth People's Hospital. Expression of cytokertin, S-100 protein, vimentin, brachyury and INI1 was detected by immunohistochemistry. The pathologic differential diagnoses and biologic behavior of various types of notochordal tumors were analyzed using the new standard in the 5th edition of WHO tumor classification. Results: Four cases of benign notochordal cell tumor were confined to vertebral body. Histopathologically, they lacked lobular architecture and extracellular myxoid matrix. The tumor cells were vacuolated and had centrally or peripherally located round to oval nuclei, with small nucleoli, without atypia, mimicking mature adipocytes. No mitotic figures were seen. Two cases of poorly differentiated chordoma, from patients aged 12 years and 21 years respectively, were located in cervical vertebra, and were composed of cohesive sheets or nests of epithelioid cells, with focal rhabdoid morphology. There was relatively abundant eosinophilic cytoplasm and scattered cytoplasmic vacuoles. The moderately pleomorphic nuclei were round to ovoid with vesicular chromatin and mitotic figures could be seen. Extracellular myxoid stroma was observed focally. Forty cases of conventional chordoma and two cases of extra-axis chordoma had similar histologic features. All 48 cases expressed cytokeretin, 45 cases expressed brachyury, and two poorly differentiated tumors showed loss of INI1/SMARCB1. Conclusions: There are four subtypes of chordomas: conventional, dedifferentiated, poorly differentiated and extra-axis. Chondroid chordoma is no longer thought to be a distinct entity. Each type has its unique clinicopathological characteristics. Brachyury is highly specific and sensitive for the diagnosis of various notochordal tumors. Poorly differentiated chordoma shows distinct clinicopathological features, including young age and loss of immunohistochemical expression of INI1/SMARCB1, and its diagnosis requires the combined detection of brachyury and INI1/SMARCB1.

What is a benign notochordal cell tumour? A systematic review of the literature

What is a benign notochordal cell tumour? A systematic review of the literature

Chromosome 3p loss of heterozygosity and reduced expression of H3K36me3 correlate with longer relapse-free survival in sacral conventional chordoma

Conventional chordoma is a rare slow-growing malignant tumor of notochordal origin primarily arising at the base of the skull and sacrococcygeal bones. Chordoma may arise from its benign counterpart, benign notochordal cell tumors, and can also undergo dedifferentiation progressing into dedifferentiated chordoma. No study has directly compared the genomic alterations among these tumors comprising a morphologic continuum. Our prior study identified frequent chromosome 3p loss of heterozygosity and minimal deleted regions on chromosome 3 encompassing SETD2, encoding a histone methyltransferase involved in histone H3 lysine 36 trimethylation (H3K36me3). In the present study, we expanded our study to include 65 sacral conventional chordoma cases, 3 benign notochordal cell tumor cases, and 2 dedifferentiated chordoma cases using single nucleotide polymorphism (SNP) array, targeted next-generation sequencing analysis, and immunohistochemistry. We performed immunohistochemical analysis of histone, H3K36me3, and investigated whether there is any association between the clinical behavior and recurrent chromosome or aneuploidyor H3K36me3 protein expression. We found that there is increased genomic instability from benign notochordal cell tumor to conventional chordomato dedifferentiated chordoma. The highly recurrent genomic aberration, chromosome 3p loss of heterozygosity (occurred in 70% of conventional chordomas), is correlated with longer relapse-free survival, but not with overall survival or metastasis-free survival in sacral chordoma. Chordomas demonstrate variable patterns and levels of H3K36me3 expression, and reduced expression of H3K36me3 showed marginally significant correlation with longer relapse-free survival. Copy number alterations in the genes encoding the H3K36me3 methylation transferase complex and demethylase may account for the altered H3K36me3 expression levels.

Know Your Notochord: A Pictorial Review of Notochord Remnants

Notochord formation begins between the third and fourth weeks of embryonic development. As the axial skeleton develops, the notochord regresses and eventually contributes to the formation of the nucleus pulposus of the intervertebral disks. Notochord regression can be variable, especially at the 2 poles of the skeleton, which results in the persistence of ectopic notochordal remnants. These remnants include benign entities (eg, ecchordosis physaliphora, benign notochordal cell tumor, Tornwaldt cyst, canalis basilaris medianus, fossa navicularis) or malignant lesions (eg, chordoma). We present a review of these lesions, their clinical presentations, and their typical radiographic appearances. Notochord remnants may have overlapping features in terms of their location and appearance; however, differentiation is crucial because the proper treatment and management may differ drastically. Familiarity with notochord development aids in understanding the characteristic locations of notochordal remnants. Noting the unique imaging findings of notochordal remnants can often help narrow the differential diagnoses.Learning Objective: To describe notochord development, normal regression during fetal life, and notochord remnants that give rise to anatomic variants, including benign and malignant lesions.

A Rare Presentation of Axial Chordoma and the Approach to Management

Patient: Female, 50Final Diagnosis: Axial chordomaSymptoms: Back ache • numbness • urine incontinence • weaknes of lower limbsMedication: —Clinical Procedure: —Specialty: Plastic SurgeryObjective:Rare diseaseBackground:Chordoma is a primary bone tumor that most commonly arises in the sacrococcygeal vertebrae and the spheno-occipital areas. Chordoma is a malignant tumor that should be distinguished from benign notochordal cell tumor (BNCT) of the spine. This report is of a rare case of axial chordoma and describes the challenging approach to diagnosis and management.Case Report:A 50-year-old woman presented with a one-year history of a slowly growing swelling in the sacral region. She complained of numbness and progressive weakness in both lower limbs, and urinary incontinence. Computed tomography (CT) imaging showed a large destructive lesion involving the sacrum and coccyx with cranial extension to level S2 and invasion of the right and left S2–S3 neural foramina, sacral nerves, left gluteus maximums muscle, and adjacent subcutaneous tissue. The management approach included the early involvement of a multidisciplinary clinical team. En bloc resection of the tumor through an anterior and posterior approach was performed, and the defect was reconstructed later using bilateral rotational gluteal fascial flaps.Conclusions:Axial chordoma is a very rare, locally aggressive, and highly recurrent primary tumor of bone. The clinical management is challenging and requires early involvement of a multidisciplinary team. Following surgical resection, careful selection from limited available reconstructive surgical options is necessary to ensure that the surgical defect is repaired.

<p>Squamous-cell carcinoma arising in a pericoccygeal–rectal epithelial inclusion cyst with adjacent benign notochordal cell tumor: first case report and review of the literature</p>

Squamous-cell carcinoma arising in a pericoccygeal-rectal epithelial inclusion cyst with adjacent benign notochordal cell tumor: first case report and review of the literature Lorraine Lopez,1 Luke Schoeniger,2 Zhongren Zhou1 1Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, NY, USA; 2Department of Surgery, University of Rochester, Rochester, NY, USA Background: Malignant transformation of epidermal inclusion cysts (EICs) is rare. Only one case has been reported in the pericoccygeal–rectal region. Benign notochordal cell tumor (BNCT) is also rare. There have been no reports of squamous-cell carcinoma (SCC) arising in EICs with adjacent BNCT in the English-language literature.Case presentation: An 83-year-old male patient with a history of malignant fibrous histiocytoma of the thigh after resection and irradiation presented clinically with a pericoccygeal–rectal, flocculent, painful mass 7 cm in diameter. No osseous destruction was associated on magnetic resonance imaging. Partial sacrectomy and coccygectomy with en bloc resection of retrorectal cystic tumor were performed. Histology showed SCC arising from an EIC. SCC cells were positive for p53, EGFR, p16, and cytokeratin 5/6 on immunostaining and negative for human papillomavirus. Adjacent to the EIC, one tumor showed bland cells with numerous intracytoplasmic vacuoles. These cells were positive for epithelial membrane antigen, pancytokeratin, S100, and negative for CD68, which confirmed the diagnosis of BNCT. The diagnosis was well moderately differentiated invasive SCC arising in an EIC with an adjacent BNCT abutting to bone.Conclusion: We report the first case of SCC arising from an EIC with an adjacent BNCT in a patient with a history of malignant fibrous histiocytoma. Partial sacrectomy and coccygectomy with en bloc resection of retrorectal cystic tumor and wide margins taken prevented recurrence of both tumors. Keywords: squamous cell carcinoma, epidermal inclusion cyst, benign notochordal cell tumor, malignant transformation, pericoccygeal–rectal region

P92 What is a benign notochordal cell tumour?

ObjectivesCharacteristics from a large systematic review.DesignThe first systematic review of benign notochordal cell tumours.SubjectsAll studies, in any language, published at any time, identified using specified search terms.MethodsPreferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).ResultsSo-called benign notochordal cell tumours exhibited the following features: pain was the sole presenting symptom in 37/81 (45.7%) and neurological deficit in 36/81 (44.4%). Incidental discovery upon imaging was reported in 8/81 (9.9%). Radiologically, lesions were small, (≤30 millimetres at their maximum diameter) in 57/65 (87.7%), hypointense on T1 sequences and hyperintense on T2 sequences on magnetic resonance imaging (106/130; 81.5%), did not enhance following contrast administration (62/74; 83.8%) and were non-lytic (80/160; 50.0%). Histologically, these tumours lacked myxoid matrix (66/84; 78.6%) and nuclear atypia (100/112; 89.3%). In those managed conservatively, follow up was between 8.5 and 120 months. Most were stable at follow up (22/25; 88.0%), one lesion grew (4.0%), one patient died of an unrelated cause (4.0%) and outcome was not stated in one case (4.0%).ConclusionsBNCTs exhibit a spectrum of features, none of which are pathognomonic and diagnosis is subjective. The majority of reports describe small, non-progressive, non-lytic lesions that lack contrast enhancement, intercellular myxoid matrix and nuclear atypia. They are nevertheless difficult to distinguish from small chordomas.

Benign notochordal cell tumour: clinicopathology and molecular profiling of 13 cases

AimsTo study the clinicopathological and molecular features of benign notochordal cell tumours (BNCTs) and their differential diagnosis from chordoma.Methods13 cases of BNCT were investigated. The genome-wide copy number imbalances were...

非常に稀な肺原発良性脊索細胞腫の1例

症例は35歳男性．健康診断にて胸部異常影を指摘されるが，経過観察されていた．4年後の健康診断で異常影がわずかに増大したため，当科受診となった．胸部CTでは，右肺上葉に5 mmの境界明瞭な結節影を認めた．過誤腫等の良性腫瘍を疑い，確定診断・治療目的に鏡視下手術を施行した．右肺上葉部分切除術を施行したが，迅速組織診断では肺腫瘍としては珍しい粘液様腫瘍であり，良悪性の診断は困難であった．病理組織学的には，腫瘍細胞がシート状に配列しており，免疫組織学的にBrachyury陽性であったが核異型・分葉構造が見られず，骨外性の良性脊索腫と診断された．

Tumor benigno de células notocordales

Benign notochordal cell tumors (TBCN) are lesions with notochordal differentiation which affect the axial skeleton. They are characterized by asymptomatic or non-specific symptomatology and are radiologically unnoticed because of their small size, or because they are mistaken with other benign bone lesions, such as vertebral hemangiomas. When they are large, or symptomatic, can be differential diagnosis with metastases, primary bone tumors and chordomas. We present a case of a TBCN in a 50-year-old woman, with a sacral lesion seen in MRI. A CT-guided biopsy was scheduled to analyze the lesion, finding that the tumor was not clearly recognizable on CT, so the anatomical references of MRI were used to select the appropriate plane. The planning of the approach and the radio-pathological correlation were determinant to reach the definitive diagnosis.

A retrospective case series highlighting the relationship between benign notochordal cell tumours and chordoma

A retrospective case series highlighting the relationship between benign notochordal cell tumours and chordoma

Benign notochordal cell tumor of C2 vertebra mimicking metastasis

A 28-year-old man was admitted to our hospital with cervical pain for 3 months. The patient had a history of testicular seminoma and was operated 6 years ago. His physical examination and lateral cervical spine x-ray were normal. Magnetic resonance imaging was performed, and the images showed hypointense signal on T1-weighted images and hyperintense signal on T2-weighted images at the C2 vertebral body (Figure). Transoral biopsy was performed due to suspicion of metastasis; pathology was consistent with benign notochordal cell tumor. Metastasis or chordoma was not detected. Benign notochordal cell tumor is a rare intraosseous benign lesion of notochordal cell origin. Differential diagnosis includes chordoma, metastatic disease, hemangioma, lymphoma, and Paget disease. Onur Levent Ulusoy, MD Suleyman Tutar, MD Ersin Ozturk, Assoc. Prof. Ayhan Mutlu, MD Istanbul Florence Nightingale Hospital Department of Radiology 34381, Sisli, Istanbul, Turkey GATA Haydarpasa Teaching Hospital Department of Radiology 34668, Uskudar, Istanbul, Turkey

Vertebral Benign Notochordal Cell Tumor (BNCT) as an Incidental Finding in Cervical Radiculitis

Vertebral Benign Notochordal Cell Tumor (BNCT) as an Incidental Finding in Cervical Radiculitis

Difficulty distinguishing benign notochordal cell tumor from chordoma further suggests a link between them.

BackgroundMuch discussion about benign notochordal cell tissue in vertebrae has centered on the nature of its relationship, if any, to chordoma. Often referred to as benign notochordal cell tumors (BNCTs), these lesions have unique morphological features, however, differentiating between notochordal cells in discs, BNCT, and chordoma can be difficult. They are described as radiologically distinct from chordoma, with lysis, contrast enhancement, and a soft tissue mass indicating chordoma.MethodsAll chordomas diagnosed at our institution, the Istituto Ortopedico Rizzoli (Bologna, Italy), prior to 2008 were reviewed, yielding 174 cases. Five were limited to bone; one was a recurrent chordoma without original data available. The remaining four were re-evaluated in detail.ResultsThere were three women and one man, aged 33–57 years (mean, 48 years). Two were BNCTs and two were mixed lesions containing BNCT and chordoma. On computed tomography, all were radiopaque with areas of lysis. One BNCT was heterogeneous on magnetic resonance imaging, enhancing after contrast. Microscopically, one BNCT had a well-defined cystic area with a sclerotic border. The other had a minute atypical area; it recurred as chordoma. The mixed lesions had areas of definitive BNCT, definitive chordoma, and atypical areas that did not meet the criteria for either. The atypical areas in all three cases ‘blended’ with areas of chordoma or BNCT.ConclusionThese cases illustrate the ongoing challenges in differentiating between BNCT and chordoma. All had unique imaging features; three had atypical microscopic areas blending with BNCT or chordoma, strengthening the argument for a relationship between the two entities and supporting the idea that some BNCTs may progress to chordoma. Our study dispels the notion that any single radiologic criterion used to distinguish between chordoma and BNCT is reliable, opening the discussion as to whether or how to monitor BNCTs.

Benign Notochordal Cell Tumor of the Sacrum with Atypical Imaging Features: The Value of CT Guided Biopsy for Diagnosis

We report a case of a benign notochordal cell tumor (BNCT) of the sacrum with atypical imaging features, which was incidentally discovered in a 74-year-old man undergoing evaluation for progressively worsening hip and back pain. It is important for radiologists, pathologists and orthopedic surgeons to be aware of the diagnosis of BNCT and be familiar with its radiographic features to avoid unnecessary treatment. This case illustrates the advantage of percutaneous computed tomography (CT)-guided biopsy as a minimally invasive technique for definitive diagnosis of a BNCT with atypical imaging features.

Author's reply to the comments “Benign notochordal cell tumour: Biopsy not required”

Author's reply to the comments “Benign notochordal cell tumour: Biopsy not required”